Home-Based Video Capture to Assess Function in People Living with Angelman Syndrome
Researchers from MS Endpoint Solutions have developed a home-based video capture method to assess function in people living with Angelman Syndrome. The method involves training caregivers to record videos of their children performing everyday tasks at home, which are then scored by trained raters using validated scorecards. The researchers have conducted a feasibility study and developed scorecards for four domains: communication, gross motor skills, assistance required for daily activities, and receptivity to external direction. They have also achieved high intra-rater reliability in scoring the videos. The next steps for the researchers include validating the scores and assessing short-term variability in performance. The goal of this research is to provide a sensitive and reliable outcome measure for Angelman Syndrome and ensure that families participating in clinical trials receive definitive answers about the effectiveness of treatments.
In this talk, we will discuss the use of home-based video capture as a method to assess function in people living with Angelman Syndrome. This research has been conducted by Kriszha Sheehy and Mindy Leffler from MS Endpoint Solutions. The aim of this study is to provide a sensitive and reliable outcome measure for individuals with Angelman Syndrome, addressing the unmet need in this area.
The motivation for this research stems from personal experiences. Kriszha Sheehy’s son, Aiden, has Duchenne muscular dystrophy, and they have faced numerous failed clinical trials in the past. This led Kriszha to take matters into her own hands and start capturing videos of her son’s progress during clinical trials. This approach proved to be valuable in assessing his function and determining the effectiveness of the treatments.
Development of the Video Capture Method
The researchers started by developing a structured and standardized approach to home-based video capture. Caregivers were provided with training materials, including videos and a manual, to guide them in capturing videos of their children performing everyday tasks at home. Quality monitors reviewed the videos to ensure they were suitable for scoring, and central raters, who were trained and certified, used validated scorecards to score each video.
Applying the Method to Angelman Syndrome
After successfully validating the video capture method in Duchenne muscular dystrophy, the researchers decided to apply it to Angelman Syndrome. They found similar themes in the Angelman Syndrome community, such as a lack of specific outcome measures, a disconnect between clinic performance and home performance, and concerns about the appropriateness of the tasks being measured.
The researchers identified four domains to assess in Angelman Syndrome: communication, gross motor skills, assistance required for activities of daily living, and receptivity to external direction. Each domain was accompanied by research questions that caregivers wanted to be answered.
To develop and refine the scorecards for each domain, the researchers conducted an observational study called the ASVA source material study. They asked Angelman Syndrome experts and outcome measure development specialists to independently review videos and brainstorm potential criteria. Workshops were then held to reach consensus on what should be scored in each domain.
The researchers drafted the initial scorecards based on the consensus and sought feedback from experts. A two-round modified Delphi process was conducted to reach consensus on the clarity and comprehensiveness of the scorecards. Caregivers, clinicians, and physical therapists specializing in Angelman Syndrome participated in the process.
Training and Reliability
To ensure reliability in scoring, the researchers trained physical therapists, speech language pathologists, and occupational therapists on the use of the scorecards. The training involved reviewing recorded sessions and attending live Q&A sessions. The therapists were then tested on their ability to apply the scorecards to videos.
Intra-rater reliability tests were conducted to assess the agreement among raters. The results showed high agreement, indicating that the scoring was consistent and reliable.
Example of Scorecard in Communication Domain
The talk provides an example of how the scorecards work in the communication domain. The scorecard assesses various aspects of communication, such as the modality of expressive communication, complexity of verbal and nonverbal communication, receptive understanding, eye contact, and reciprocation/initiation. Each aspect is assigned a score based on the level of improvement or achievement.
The researchers plan to further validate the scorecards by comparing the severity levels determined by clinicians with the scores on the scorecards. They also aim to assess the variability in performance over a short term in individuals with Angelman Syndrome.
The home-based video capture method offers a sensitive and reliable outcome measure for individuals with Angelman Syndrome. By capturing videos of individuals performing everyday tasks at home, researchers can assess their function and determine the effectiveness of treatments. This method aims to provide families with definitive answers and improve the outcomes of clinical trials in Angelman Syndrome.
The researchers express their gratitude to Ionis, advocacy groups, academics, and the families who participated in the video capture. Their contributions have been invaluable in the development of this outcome measure.
- Title: Home-Based Video Capture to Assess Function in People Living with Angelman Syndrome
- Author(s): Kriszha Sheehy, MIndy Leffler
- Author(s)’ affiliation: Emmes Endpoint Solutions; Emmes Endpoint Solutions
- Publication date: 2023-11-12
- Collection: 2023 FAST Science Summit